Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258744 | SCV000320783 | uncertain significance | Coloboma of optic nerve; Piebaldism; Unsteady gait; Conductive hearing impairment; Hyperpigmentation of the skin; Bruising susceptibility; Hypopigmented skin patches; Intellectual disability, mild; Joint laxity; Bulbous tips of toes; White forelock; Abnormality of thyroid physiology; Reduced visual acuity; Lower limb asymmetry; Hyperconvex toenail; Ventricular septal defect | 2016-08-20 | criteria provided, single submitter | research |